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  Previous Meetings:
 

 

ANNUAL SYMPOSIUM 2010
(February 2010, Miami, FL, USA)
download .pdf 

 

ANNUAL SYMPOSIUM 2009
(February 2009, San Diego, CA, USA)
Program

ANNUAL SYMPOSIUM 2008
(February 2008, Las Vegas, NV, USA)
Meeting Program Now Online!

And as a .pdf file
 

ANNUAL SYMPOSIUM 2006

Update: The Proceedings of the LDN WORLD Symposium 2006 are now published in the December 2007 issue of
Molecular Genetics and Metabolism

(Volume 92, Issue 4, Pages S1-S34, 287-378)


ANNUAL SYMPOSIUM 2005
Program and Abstracts (640kb .pdf file)

ANNUAL SYMPOSIUM 2004
Program


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WORLD Symposium 2009       Preliminary Program

Wednesday
February 18

 

BASIC AND BENCH RESEARCH DAY

Session 1

 

 

Co-Chairs: Steven Walkley, Dwight Koeberl

8:00

 

Chester B. Whitley
University of Minnesota, Minneapolis, MN

Welcome

Introduction of LDN Awardee

8:15

 

Elizabeth F. Neufeld
UCLA, Los Angeles, CA

New findings in the brain of the MPS III B mouse model

8:45

 

Steven U. Walkley
Albert Einstein College of Medicine, Bronx, NY

The Greater Lysosomal System and Lysosomal Disease

9:00

 

Ralph Nixon
Nathan Kline Institute
Orangeburg, NY

Autophagy Dysfunction in Alzheimer's Disease and Other Late-Onset Neurodegenerative Diseases

9:20

 

Andrew Lieberman
University of Michigan, MI

Autophagy in the Pathogenesis of Niemann-Pick C Disease

9:40

 

Break

 

10:00

 

Andrea Ballabio
Fondazione Telethon, Italy

Impairment of Autophagy in Lysosomal Storage Diseases

10:20

 

Silvia Vergarajauregui
National Institutes of Health, Bethesda, MD

Autophagic Dysfunction in Mucopolysaccharidosis Type IV Patients

10:35

 

Matthew Micsenyi
Albert Einstein College of Medicine, Bronx, NY

P62/Sequestosome 1 Accumulates in the CNS of Lysosomal Diseases

10:50

 

Mark Sands
Washington University School of Medicine, St. Louis, MO

Metabolic and Clinical Adaptations to Interrupted Lysosomal Recycling

11:05

 

Charles Roe
Baylor University Medical Center, Dallas, TX

IGF-1 Resistance is a Reversible Feature of Late-Onset Acid Maltase Deficiency (AMD)

11:25

 

Discussion

 

11:45

 

Session concludes

 

 

 

Lunch Break

LDN Steering Committee, Advisory Committee, & U54 Research Investigators’ Lunch (12:00-1:00 PM)         INVITATION ONLY

 

Session 2

 

 

Lysosomal Protein Function and Disease Pathogenesis

 

Co-Chairs:  Beverly Davidson, Patricia Manos

1:15

 

Rodney Infante
University of Texas Southwestern Medical Center, Dallas, TX

NPC2 Facilitates Bidirectional Transfer of Cholesterol Between NPC1 and Lipid Bilayers, A Potential Step in Cholesterol Egress from Lysosomes

1:35

 

Edward Schuchman
Mount Sinai School of Medicine, New York, NY

Construction & Characterization of Mutation-Specific Mouse Models for Types A and B Niemann-Pick Disease

1:50

 

Beverly Davidson
University of Iowa,
Iowa City, IA

Enzyme Replacement in Animal Models of the Late Infantile Form of Batten Disease

2:05

 

Sandra Hofmann
University of Texas Southwestern Medical Center, Dallas, TX

Metabolic Profiling of Infantile Neuronal Ceroid Lipofuscinosis

2:20

 

Angela Schulz
University Medical Center Hamburg, Hamburg, Germany

Retention of Lysosomal Protein CLN5 in the Endoplasmic Reticulum Causes Neuronal Ceroid Lipofuscinosis in Asian Sibship

2:35

 

Amelia Ahern-Rindell
University of Portland, Portland, OR

Analysis of Beta-Galactosidase in an Ovine Model of GM1-Gangliosidosis

2:50

 

Discussion

 

3:10

 

Break

 

3:25

 

Mia Horowitz
Ramat Aviv, Israel

Interaction Between Parkin and Glucocerebrosidase: A Possible Link between Parkinson Disease and Gaucher Disease

3:40

 

Xiaoyang Qi
University of Cincinnati, Cincinnati, OH

Role of Saposin C in Multivesicular Body Bioformation and Neuropathogenesis

3:55

 

Kirill Kiselyov
University of Pittsburgh, Pittsburgh, PA

Membrane Traffic and Cell Death in Mucolipidosis Type IV

4:10

 

Participant Interactive Session

Using ARS technology for participant feedback, discussion, and educational measurement

4:25

 

Discussion

 

 

4:40

 

 

LDN Research Proposals

 

Co-Chair:  John Barranger, Elsa Shapiro

 

 

Elsa G. Shapiro
University of Minnesota,
Minneapolis, MN

Neuropsychological Outcomes in Hurler Syndrome: 7-20 Years Post-Hematopoietic Stem Cell Transplantation

 

 

Agnes Chen, MD
UCLA Medical Center, Torrance, CA

Intrathecal Enzyme Replacement Therapy  for Cognitive Decline in MPS I 

 

 

Lynda Polgreen
University of Minnesota
Minneapolis, MN

High Prevalence of Low Bone Mineral Density in Children with Hurler Syndrome after Hematopoietic Stem Cell Transplantation

 

 

Michael Potegal
University of Minnesota,
Minneapolis, MN

Behavioral Phenotypes in MPS III

 

 

Raphael Schiffman
Institute of Metabolic Disease, Dallas, TX

Mucolipidosis Type IV is a Both a Developmental Brain Disease and a Degenerative Retinopathy

 

 

Sara Cathey
Greenwood Genetic Center,
N. Charleston, SC

Collective Strength in Rare Diseases:  Longitudinal Studies of the Glycoproteinoses

5:30

 

Poster Session opens

 

6:30

 

Poster Session closes

 


 

Thursday
February 19

 

TRANSLATIONAL RESEARCH DAY

Session 3

 

Translational Research I

Co-Chairs: Gary Murray, Robert Steiner

8:00

 

Gary Murray
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD

Introduction of the LDN Awardee

8:10

 

William Sly
Saint Louis University School of Medicine, St. Louis, MO

Going the Extra Mile: Strategies to Deliver Enzyme to Resistant Sites Including Delivery Across the Blood-brain Barrier for Neuronal Correction in Murine MPS VII

8:30

 

Hong Du
Cincinnati Children's Hospital Research Foundation, Cincinnati, OH

Wolman Disease/Cholesteryl Ester Storage Disease: Efficacy of Plant-Produced Human Lysosomal Acid Lipase in Mice

8:45

 

Barry Byrne
University of Florida, Gainesville, FL

Treatment Strategies for Pompe Disease: Lessons from Preclinical and Clinical Studies

9:00

 

Bruce Bunnell
Tulane University School of Medicine, New Orleans, LA

Adipose Stem Cell-mediated Therapy for Krabbe's Disease

9:20

 

Participant Interactive Session

Using ARS technology for participant feedback, discussion, and educational measurement

9:35

 

Discussion

 

9:50

 

Break

 

10:00

 

Jeffrey Medin
Ontario Cancer Institute, University Health Network, Toronto, Canada

Outcomes of Testing Lentivector-Mediated Gene Therapy for Farber Disease in Non-Human Primates

10:15

 

R. Scott McIvor
University of Minnesota,
Minneapolis, MN

Ex Vivo Lentiviral Gene Transfer Targeting Hematopoietic Stem Cells for Therapy of Mucopolysaccharidosis Type II, Hunter Syndrome

10:30

 

Stephanos Kyrkanides
Stony Brook University, NY

The Trigeminal Retrograde Transfer Pathway in Lysosomal Storage Disease Gene Therapy

10:45

 

David Bedwell
University of Alabama, Birmingham, AL

Suppression of a Nonsense Mutation in a Mouse Model of Hurler Syndrome

11:00

 

Perry Hackett
University of Minnesota
Minneapolis, MN

Gene Therapy of MPS I Mice Using the Sleeping Beauty Transposon System

11:15

 

Krystof Bankiewicz

University of California, San Francisco

Translational Studies of AAV2-hASM Gene Transfer for Niemann-Pick Disease

11:30

 

Discussion

 

11:45

 

Session Concludes

 

 

 

Lunch Break

Council of Patient Advocates (COPA) Lunch (12:00-1:00 PM)        INVITATION ONLY

 

Session 4

 

 

Translational Research II

 

Co-Chairs:  Greg Grabowski, TBD

1:15

 

Hans Aerts

Academic Medical Center,

Amsterdam, Netherlands

Biomarkers in Lysosomal Storage Diseases

1:35

 

Don Mahuran
The Hospital For Sick Children,Toronto, ON, Canada

The Effects of Altering Calcium Homeostasis on Mutant Enzyme Activity in Chronic Tay-Sachs and Gaucher Patient Cells Treated with Pharmacological Chaperones

1:50

 

Kenneth Valenzano
Amicus Therapeutics, Inc.

Cranbury, NJ

A Combination rhGAA-Small Molecule Therapeutic Approach for the Treatment of Pompe Disease

2:05

 

Brigitte Rigat
The Hospital for Sick Children, Toronto, ON, Canada

Identification of Pharmacological Chaperones for Feline and Human GM1 Gangliosidosis

2:20

 

Aryan Namboodiri
Uniformed Services University, Bethesda, MD

Canavan Disease Treatment Using Glyceryltriacetate

2:35

 

Synthia Mellon
University of California,
San Francisco, CA

Neurosteroid Treatment of Lysosomal Storage Disorders

2:50

 

Cristin Davidson
Albert Einstein College of Medicine, Bronx, NY

Chronic Cyclodextrin Administration Ameliorates Clinical Symptoms and Storage Accumulation in Niemann-Pick Type C1 Mice

3:05

 

Discussion

 

3:20

 

Break

 

3:30

 

Jeffrey Kelly

Scripps Research Institute

La Jolla, CA

Proteostasis

3:50

 

Calogera Simonaro
Mount Sinai School of Medicine, New York, NY

Novel Biomarkers and Therapies for the Mucopolysaccharidoses

4:05

 

Melita Dvorak-Ewell
BioMarin Pharmaceutical Inc., Novato, CA

Human Primary Chondrocytes, a Relevant Model of Mucopolysaccharidosis IVA, Internalize N-Acetylgalactosamine-6-Sulfate Sulfatase into Lysosomes, Resulting in Clearance of Keratan Sulfate

4:20

 

Discussion

 

4:30

 

LDN Research Proposals

Co-Chair:  Joseph Muenzer, Elsa Shapiro

 

 

Forbes Porter
National Institutes of Health
Bethesda, MD

Longitudinal Study of Cognition in Subjects with Niemann-Pick Disease Type C

 

 

TBD

Phase I Trial of Pyrimethamine to Treat LOTS

 

 

Kendra Bjoraker
University of Minnesota,
Minneapolis, MN

A Natural History Study of Hexosaminidase Deficiency

 

 

Chester B. Whitley
University of Minnesota
Minneapolis, MN

Gene Therapy for Tay-Sachs Disease

5:30

 

Poster Session opens

 

6:30

 

Poster Session closes

 

7:00

 

Banquet

 


 

Friday
February 20

 

CLINICAL RESEARCH DAY

 

Session 5

 

 

Clinical Research I

 

Co-Chairs:  Roscoe Brady, William Wilcox

8:00

 

Roscoe O. Brady
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD

Introduction

8:05

 

Marc Patterson
Mayo Clinic, Rochester, MN

Small Molecule Therapies for Neurologic Manifestations of Lysosomal Storage Diseases in Humans

8:25

 

Ellen Sidransky
MGB, NHGRI, Bethesda, MD

Gaucher Disease and Parkinsonism

8:40

 

Neal Weinreb
University Research Foundation for Lysosomal Storage Disorders, Coral Springs, FL

A Validated Disease Severity Scoring System for Gaucher Disease Type 1

8:55

 

Judith Peterschmitt
Genzyme Corporation, Cambridge, MA

Genz-112638, an Investigational Oral Treatment for Gaucher Disease Type 1: Preliminary Phase 2 Clinical Trial Results

9:10

 

Einat Almon
Protalix Biotherapeutics, Carmiel, Israel

Novel Enzyme Replacement Therapy for Gaucher Disease: On Going Phase III Clinical Trial with Recombinant Human Glucocerebrosidase Expressed in Plant Cells

9:25

 

Discussion

 

9:40

 

Break

 

9:55

 

Paul Orchard
University of Minnesota,
Minneapolis, MN

Combined Intrathecal Iduronidase, Intravenous Iduronidase and Transplantation as Therapy for Hurler Syndrome

10:15

 

Lawrence Charnas
University of Minnesota,
Minneapolis, MN

Comparison of Concordance Ratios of Symptom Onset in Metachromatic Leukodystrophy (MLD) Sib Pairs Suggests Clinical Benefit of Preymptomatic Hematopoietic Cell Transplant (HCT)

10:30

 

Elizabeth Braunlin
University of Minnesota,
Minneapolis, MN

Cardiac Risk Stratification for Individuals with MPS IH-S: Where We Are Today

10:45

 

Gerald F. Cox

Genzme Corporation, Cambridge, MA

Genotype Frequencies in the MPS I Registry

11:00

 

Joseph Muenzer
University of North Carolina,
Chapel Hill NC

Clinical Phenotype of North American Patients with Hunter Syndrome: Data From HOS: The Hunter Outcome Survey

 

11:15

 

 

 

Klane White
Seattle Children's Hospital,
Seattle, WA

 

Musculoskeletal health in MPS II:  Pediatric Outcomes Data Collection Instrument (PODCI) demonstrates functional improvements in patients on ERT

11:30

 

Discussion

 

11:45

 

Session Concludes

 

 

 

Lunch Break

Council of Industry Professionals (COIP) Lunch Meeting (12:00-1:00 PM)    INVITATION ONLY

 

Session 6

 

 

Clinical Research II

 

Co-Chairs: Greg Pastores, Elsa Shapiro

1:15

 

Ed Wraith
Royal Manchester Children’s Hospital, Manchester, UK

Disease Stability in Patients with Niemann-Pick Disease Type C Treated with Miglustat

1:30

 

Joe T.R. Clarke
Hospital for Sick Children, Toronto, ON, Canada

Substrate Reduction Therapy with Miglustat in Juvenile GM2-gangliosidosis

1:45

 

Alfried Kohlschuetter
University of Hamburg

Germany

 

Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations

2:00

 

Patricia Duffner
Hunter James Kelly Research Institute, Buffalo, NY

Outcomes of Children Transplanted for Krabbe Disease

2:15

 

Maria L. Escolar
University of North Carolina - Chapel Hill, NC

DTI with Quantitative tractography as a Marker of Disease Progression in Newborns with Krabbe Disease

2:30

 

Discussion

 

2:45

 

Break

 

3:00

 

Laura E Case
Duke University Medical
Center, Durham, NC

Clinical Signs and Symptoms of Pompe Disease in 120 Infantile Onset and 373 Late Onset Patients: A Report from the Pompe Registry

3:15

 

Bruno Bembi
University Hospital Santa Maria della Misericordia
Udine, Italy

Enzyme Replacement Therapy with Alglucosidase Alfa in Juvenile-Adult Glycogenosis Type 2 Patients.

3:30

 

Victor De Jesus
Centers for Disease Control
and Prevention, Atlanta, GA

Results from a Pilot Quality Control Program for Lysosomal Storage Disorder Newborn Screening

3:45

 

Dolan Sondhi
Weill Cornell Medical College,
New York, NY

AAV-mediated Gene Therapy for the CNS Manifestations of the Lysosomal Storage Disorders

4:00

 

Participant Interactive Session

Using ARS technology for participant feedback, discussion, and educational measurement

4:15

 

Discussion

 

 

4:30

 

 

LDN Research Proposals

 

Co-Chair:  Chester Whitley, Elsa Shapiro

 

 

Greg Grabowski
Cincinnati Children's Hospital Research Foundation, Cincinnati, OH

Longitudinal Natural History Studies of Wolman and Cholesteryl Ester Storage Diseases

 

 

Dwight Koeberl
Duke University Medical
Center, Durham, NC

CRIM Responses in Pompe Disease

 

 

Marsha Browning
Massachusetts General
Hospital and Harvard Medical
School, Boston, MA

High Throughput Detection and Characterization of Fabry Disease in At-Risk Cardiovascular, Renal, and Neurology Populations

 

 

Michael Mauer
University of Minnesota,
Minneapolis, MN

Podocyte injury and GL-3 Accumulation are Progressive in Fabry Disease

 

 

Nancy Lyon
University of Chicago, Chicago, IL

Health, Developmental, and Functional Outcome Surveillance in Preschool Children with Lysosomal Storage Diseases (LSD)

 

 

William Wilcox
Cedars-Sinai Medical Center,
Los Angeles, CA

Pulmonary Disease and Exercise Tolerance in Boys with Fabry Disease

5:30

 

Chester B. Whitley

Concluding Remarks